Anopthalmia and Other Anomalies Associated with a Ring Chromosome No. 17-18
نویسندگان
چکیده
منابع مشابه
Ring chromosome 18 in a patient with multiple anomalies.
Ring chromosomes, long of interest in cytogenetics, have been intensively studied in corn and Drosophila (McClintock, 1932, 1938; Morgan, 1933; Battacharya, 1950) and also described in Crepis, Tulipa, Tradescantia, and other species. In the past few years, a number of reports of ring chromosomes in man have appeared (Table I). We recently encountered a mentally retarded patient with multiple co...
متن کاملSevere Anomalies Associated With Ring Chromosome
Seven previous cases of ring chromosome 7 (r(7)) have been reported in association with minor anomalies with and without mental retardation [Zackai and Breg, 1973; Nakano and Miyamoto, 1977; DeLozier et al., 1982; Barros et al., 1986; Kohyama et al., 1988; Koiffmann et al., 19901. All of the reported patients had evidence of mosaicism with the r(7) line predominating and low frequencies of doub...
متن کاملRing Chromosome 18: A Case Report
Ring chromosomes are rare chromosomal disorders that usually appear to occur de novo. A ring chromosome forms when due to deletion both ends of chromosome fuse with each other. Depending on the amount of chromosomal deletion, the clinical manifestations may be different. So, ring 18 syndrome is characterized by severe mental growth retardation as well as microcephaly, brain and ocular malformat...
متن کاملMultiple congenital anomalies associated with a ring-D chromosome.
Ring chromosomes have now been observed in all except one group of the human karyotype, though, as yet, a syndrome has not been recognized which is characterized by the presence of a ring. Ring chromosomes have been observed in group A (Gordon and Cooke, 1964), in group B (Rohde and Tompkins, 1965), in group C (Lindsten and Tillinger, 1962; Turner et al., 1962; Luers, Struck, and Nevinny-Sticke...
متن کاملRing chromosome 5 with dental anomalies.
Although ring chromosomes are observed in ahnost all autosomal groups in man, they are rare. We describe a male patient exldbiting cd du chat syndrome in which cytogenetic studies demonstrate the presonse of a ring chromosome 5. Deletion o£ the ring chromosome 5 is found between the p15 and q35 bands. Dental, medical and cytogenetic findings are compared to other ring chromosome 5 cases descMbe...
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ژورنال
عنوان ژورنال: CYTOLOGIA
سال: 1975
ISSN: 0011-4545,1348-7019
DOI: 10.1508/cytologia.40.135